ClinVar Miner

List of variants reported as pathogenic for Ullrich congenital muscular dystrophy by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (13):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1741-6G>A	rs200334019	0.00016
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)	rs2106317762

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